Canonical Allele Identifier: CA458645911

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2172395
• ClinVar RCV Id: RCV003090550
• dbSNP Id: rs1166348930
• gnomAD v2: 7-150654385-G-A
• gnomAD v3: 7-150957297-G-A
• gnomAD v4: 7-150957297-G-A
• MyVariant Identifiers: chr7:g.150654385G>A (hg19) ; chr7:g.150957297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957297G>A , CM000669.2:g.150957297G>A	GRCh38
NC_000007.13:g.150654385G>A , CM000669.1:g.150654385G>A	GRCh37
NC_000007.12:g.150285318G>A	NCBI36
NG_008916.1:g.25630C>T , LRG_288:g.25630C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1955C>T
ENST00000262186.10:c.1122C>T MANE Select	ENSP00000262186.5:p.Val374=
ENST00000262186.9:c.1122C>T	ENSP00000262186.5:p.Val374=
ENST00000430723.4:c.774C>T	ENSP00000387657.4:p.Val258=
ENST00000532957.5:n.1345C>T
NM_000238.3:c.1122C>T , LRG_288t1:c.1122C>T	NP_000229.1:p.Val374=
NM_172056.2:c.1122C>T , LRG_288t2:c.1122C>T	NP_742053.1:p.Val374=
XM_011516185.1:c.822C>T	XP_011514487.1:p.Val274=
XM_011516186.1:c.1122C>T	XP_011514488.1:p.Val374=
XM_011516185.2:c.822C>T	XP_011514487.1:p.Val274=
XM_011516186.3:c.1122C>T	XP_011514488.1:p.Val374=
XM_017012195.1:c.972C>T	XP_016867684.1:p.Val324=
XM_017012196.1:c.945C>T	XP_016867685.1:p.Val315=
NM_000238.4:c.1122C>T MANE Select	NP_000229.1:p.Val374=